filmov
tv
Vascular Ehlers-Danlos Syndrome (vEDS)
Показать описание
William T. Andrews, MD, FACP, Chief Medical Officer of Acer Therapeutics discusses his company's focus on Vascular Ehlers-Danlos Syndrome (vEDS).
Vascular Ehlers-Danlos syndrome (previously known as EDS Type IV or EDS IV) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS). Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. Vascular EDS is usually caused by a change (mutation) in the COL3A1 gene. Rarely, it may be caused by a mutation in the COL1A1 gene. Inheritance is autosomal dominant. Treatment and management is focused on preventing serious complications and relieving signs and symptoms.
Unlike other subtypes of EDS, people with vEDS often do not have the typical symptoms of EDS, which include skin hyperextensibility (skin that is easily stretched) and hypermobility of the joints (unusually large joint range of motion). Because of the lack of other symptoms associated with EDS, the first symptom a person with vEDS may experience is often related to a catastrophic complication, such as colonic perforation, when the tissue of the colon tears, or an arterial rupture, when the wall of an artery tears.
Vascular EDS is considered the most severe EDS subtype. The average lifespan is 50 years, with 70% of people with vEDS experiencing a major complication by the age of 30 years. There are approximately 2,000 people in the U.S. diagnosed with vEDS, though experts estimate as many as 5,000 people may be affected. Vascular EDS should be suspected in the presence of the following major symptoms:
- Characteristic facial features (thin lips, narrow nose, undersized jaw, protruding eyes)
- Easy bruising
- Thin skin with visible veins (especially on the chest or abdomen)
- Rupture or tearing of the arteries, intestines or uterus
- Family history of vEDS
Other less obvious symptoms that may also help raise suspicion of vEDS include:
- Acrogeria (an aged appearance, especially of the hands and feet)
- Carotid-cavernous sinus arteriovenous fistula (an abnormal connection between an artery in the neck and a set of veins behind the eye)
- Joint hypermobility
- Rupture of muscles or tendons
- Early-onset varicose veins
- Collapsed lung (with possible buildup of blood in the chest cavity)
- Chronic joint dislocations
- Dislocated hips or clubfoot (in infants born with the disorder)
Receding gums
Clinical suspicion of vEDS is confirmed through genetic testing of COL3A1 and/or biochemical analysis of fibroblasts, the cells that produce collagen, as a means of detecting abnormalities in type III collagen.
There is currently no approved treatment option for vEDS. In 2015, the U.S. Food and Drug Administration (FDA) granted EDSIVO (celiprolol) orphan drug designation for the potential treatment of vEDS.
Vascular Ehlers-Danlos syndrome (previously known as EDS Type IV or EDS IV) is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS). Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. Vascular EDS is usually caused by a change (mutation) in the COL3A1 gene. Rarely, it may be caused by a mutation in the COL1A1 gene. Inheritance is autosomal dominant. Treatment and management is focused on preventing serious complications and relieving signs and symptoms.
Unlike other subtypes of EDS, people with vEDS often do not have the typical symptoms of EDS, which include skin hyperextensibility (skin that is easily stretched) and hypermobility of the joints (unusually large joint range of motion). Because of the lack of other symptoms associated with EDS, the first symptom a person with vEDS may experience is often related to a catastrophic complication, such as colonic perforation, when the tissue of the colon tears, or an arterial rupture, when the wall of an artery tears.
Vascular EDS is considered the most severe EDS subtype. The average lifespan is 50 years, with 70% of people with vEDS experiencing a major complication by the age of 30 years. There are approximately 2,000 people in the U.S. diagnosed with vEDS, though experts estimate as many as 5,000 people may be affected. Vascular EDS should be suspected in the presence of the following major symptoms:
- Characteristic facial features (thin lips, narrow nose, undersized jaw, protruding eyes)
- Easy bruising
- Thin skin with visible veins (especially on the chest or abdomen)
- Rupture or tearing of the arteries, intestines or uterus
- Family history of vEDS
Other less obvious symptoms that may also help raise suspicion of vEDS include:
- Acrogeria (an aged appearance, especially of the hands and feet)
- Carotid-cavernous sinus arteriovenous fistula (an abnormal connection between an artery in the neck and a set of veins behind the eye)
- Joint hypermobility
- Rupture of muscles or tendons
- Early-onset varicose veins
- Collapsed lung (with possible buildup of blood in the chest cavity)
- Chronic joint dislocations
- Dislocated hips or clubfoot (in infants born with the disorder)
Receding gums
Clinical suspicion of vEDS is confirmed through genetic testing of COL3A1 and/or biochemical analysis of fibroblasts, the cells that produce collagen, as a means of detecting abnormalities in type III collagen.
There is currently no approved treatment option for vEDS. In 2015, the U.S. Food and Drug Administration (FDA) granted EDSIVO (celiprolol) orphan drug designation for the potential treatment of vEDS.
0:05:15
Vascular Ehlers-Danlos Syndrome (vEDS)
0:04:23
Vascular Ehlers-Danlos Syndrome (vEDS)
0:08:19
Clare - 'Living with vascular Ehlers-Danlos syndrome (vEDS).'
0:00:50
Vascular Ehlers-Danlos Syndrome (vEDS) & Genetic Testing by Dr. David Saperstein
0:51:34
Conversations With Professionals: Vascular Ehlers-Danlos Syndrome (vEDS) - 2022
0:01:50
Navigating the Complexities of Vascular Ehlers-Danlos Syndrome (VEDS) | Science 37
0:15:12
My VEDS Characteristics and Diagnosis Story (Vascular Ehlers-Danlos syndrome)
0:03:10
Arterial Complications of Vascular Ehlers-Danlos Syndrome (vEDS)
0:07:40
Community Voices: Faith Smith 'Living with the pain from vEDS.'
0:04:13
Genetics of vascular Ehlers-Danlos syndrome (vEDS) : Part 1 - Pathogenic variants in COL3A1
1:04:20
Creating a Care Team for VEDS (Vascular Ehlers-Danlos Syndrome)
0:02:45
Gastrointestinal Complications in vascular Ehlers-Danlos Syndrome (vEDS)
0:05:54
Clinical Features and Diagnostic criteria of vascular Ehlers-Danlos syndrome (vEDS) - Part 1
0:08:32
Pregnancy in vascular Ehlers-Danlos syndrome (vEDS) – Part 1
0:58:12
Vascular Ehlers Danlos: An Overview (Virtual Medical Symposium Series - 3/18/19)
0:05:07
Monitoring and Management of vascular Ehlers-Danlos syndrome (vEDS) - Part 3
0:04:43
Community Voices: Emma Borreggine
0:06:55
Natural history and complications of vascular Ehlers-Danlos syndrome (vEDS) - Part 2
0:00:50
Vascular Ehlers-Danlos Syndrome (vEDS) & Genetic Testing by Dr. David Saperstein - #shortsvideo
0:12:59
Emotions Getting My VEDS (Vascular Ehlers-Danlos syndrome)Diagnosis (and how I dealt with them)
0:03:28
Unmet medical needs in vEDS - patients perspective
0:05:21
Vascular Ehlers-Danlos Syndrome: Diagnostic Criteria
0:08:35
2023 Pregnancy in Vascular Ehlers-Danlos Syndrome (vEDS) The Sheffield Experience - Dr. Glenda Sobey
1:01:52
Morristown Hospital Pediatric Grand Rounds Vascular Ehlers-Danlos Syndrome
Комментарии